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| Paediatric disorders - additional genes v1.96 | NADSYN1 | Arina Puzriakova Tag for-review was removed from gene: NADSYN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.96 | NADSYN1 | Sarah Leigh commented on gene: NADSYN1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.95 | NADSYN1 |
Arina Puzriakova Source Expert Review Green was added to NADSYN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Paediatric disorders - additional genes v1.55 | NADSYN1 | Sarah Leigh Classified gene: NADSYN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.55 | NADSYN1 | Sarah Leigh Gene: nadsyn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.54 | NADSYN1 | Sarah Leigh Tag for-review tag was added to gene: NADSYN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.54 | NADSYN1 |
Sarah Leigh gene: NADSYN1 was added gene: NADSYN1 was added to Paediatric disorders - additional genes. Sources: Expert list,Literature Mode of inheritance for gene: NADSYN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NADSYN1 were set to 31883644 Phenotypes for gene: NADSYN1 were set to Vertebral, cardiac, renal, and limb defects syndrome 3 618845 Review for gene: NADSYN1 was set to AMBER Added comment: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 6 variants reported in at least 4 families, together with supportive functional studies (PMID 31883644). Sources: Expert list, Literature |
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